AutismKB 2.0

View Mosaic CNV


PubMed ID Case Source Diagnosis Criteria Final Diagnosis Case Number
16602035 ADI-R;ADOS-G autism 1
Method Band Gain/Loss Inherit Control Number
FISH 8p21-23 gain de novo 0
Description
Partial trisomy of the distal part of the short arm of chromosome 8 (8p2123) was associated with autism

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018